LDH info

Canonical Allele Identifier: CA16042437
Gene: SCN1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372903
ClinVar RCV Id: RCV000414265
dbSNP Id: rs1057518062

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166002476T>A , CM000664.2:g.166002476T>A GRCh38
NC_000002.11:g.166858986T>A , CM000664.1:g.166858986T>A GRCh37
NC_000002.10:g.166567232T>A NCBI36
NG_011906.1:g.76164A>T , LRG_8:g.76164A>T

Transcript Alleles

HGVS Amino-acid change
NM_001165963.1:c.4280A>T VV NP_001159435.1:p.Gln1427Leu
NM_001165964.1:c.4196A>T VV NP_001159436.1:p.Gln1399Leu
NM_001202435.1:c.4280A>T VV NP_001189364.1:p.Gln1427Leu
NM_006920.4:c.4247A>T , LRG_8t1:c.4247A>T NP_008851.3:p.Gln1416Leu
NR_110598.1:n.176-13137T>A
XM_011511598.1:c.4280A>T XP_011509900.1:p.Gln1427Leu
XM_011511599.1:c.4280A>T XP_011509901.1:p.Gln1427Leu
XM_011511600.1:c.4280A>T XP_011509902.1:p.Gln1427Leu
XM_011511601.1:c.4280A>T XP_011509903.1:p.Gln1427Leu
XM_011511602.1:c.4280A>T XP_011509904.1:p.Gln1427Leu
XM_011511603.1:c.4277A>T XP_011509905.1:p.Gln1426Leu
XM_011511604.1:c.4247A>T XP_011509906.1:p.Gln1416Leu
XM_011511605.1:c.4244A>T XP_011509907.1:p.Gln1415Leu
XM_011511606.1:c.4196A>T XP_011509908.1:p.Gln1399Leu
XM_011511607.1:c.4003-2700A>T XP_011509909.1:p.=
XR_922981.1:n.4528A>T
NM_001165963.2:c.4280A>T VV NP_001159435.1:p.Gln1427Leu
NM_001165964.2:c.4196A>T VV NP_001159436.1:p.Gln1399Leu
NM_001202435.2:c.4280A>T VV NP_001189364.1:p.Gln1427Leu
NM_001353948.1:c.4280A>T VV NP_001340877.1:p.Gln1427Leu
NM_001353949.1:c.4247A>T VV NP_001340878.1:p.Gln1416Leu
NM_001353950.1:c.4247A>T VV NP_001340879.1:p.Gln1416Leu
NM_001353951.1:c.4247A>T VV NP_001340880.1:p.Gln1416Leu
NM_001353952.1:c.4247A>T VV NP_001340881.1:p.Gln1416Leu
NM_001353954.1:c.4244A>T VV NP_001340883.1:p.Gln1415Leu
NM_001353955.1:c.4244A>T VV NP_001340884.1:p.Gln1415Leu
NM_001353957.1:c.4196A>T VV NP_001340886.1:p.Gln1399Leu
NM_001353958.1:c.4196A>T VV NP_001340887.1:p.Gln1399Leu
NM_001353960.1:c.4193A>T VV NP_001340889.1:p.Gln1398Leu
NM_001353961.1:c.1838A>T VV NP_001340890.1:p.Gln613Leu
NM_006920.5:c.4247A>T VV NP_008851.3:p.Gln1416Leu
NR_148667.1:n.4716A>T
XR_001738883.1:n.4730A>T
XR_001738884.1:n.4702A>T
NM_001165963.3:c.4280A>T VV NP_001159435.1:p.Gln1427Leu
NM_001165964.3:c.4196A>T VV NP_001159436.1:p.Gln1399Leu
NM_001202435.3:c.4280A>T VV NP_001189364.1:p.Gln1427Leu
NM_001353948.2:c.4280A>T VV NP_001340877.1:p.Gln1427Leu
NM_001353949.2:c.4247A>T VV NP_001340878.1:p.Gln1416Leu
NM_001353950.2:c.4247A>T VV NP_001340879.1:p.Gln1416Leu
NM_001353951.2:c.4247A>T VV NP_001340880.1:p.Gln1416Leu
NM_001353952.2:c.4247A>T VV NP_001340881.1:p.Gln1416Leu
NM_001353954.2:c.4244A>T VV NP_001340883.1:p.Gln1415Leu
NM_001353955.2:c.4244A>T VV NP_001340884.1:p.Gln1415Leu
NM_001353957.2:c.4196A>T VV NP_001340886.1:p.Gln1399Leu
NM_001353958.2:c.4196A>T VV NP_001340887.1:p.Gln1399Leu
NM_001353960.2:c.4193A>T VV NP_001340889.1:p.Gln1398Leu
NM_001353961.2:c.1838A>T VV NP_001340890.1:p.Gln613Leu
NM_006920.6:c.4247A>T VV NP_008851.3:p.Gln1416Leu
NR_148667.2:n.4697A>T
ENST00000303395.8:c.4280A>T ENSP00000303540.4:p.Gln1427Leu
ENST00000375405.7:c.4247A>T ENSP00000364554.3:p.Gln1416Leu
ENST00000409050.1:n.4196A>T ENSP00000386312.1:p.Gln1399Leu
ENST00000423058.6:c.4280A>T ENSP00000407030.2:p.Gln1427Leu
ENST00000491429.1:n.433A>T